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Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | C2orf69 | Achchuthan Shanmugasundram changed review comment from: The OMIM entry for this gene is OMIM:619219, which has been crossed checked with both Ensembl and HGNC. Hence, gene-checked tag has been added.; to: The OMIM entry for this gene is OMIM:619219, which has been cross-checked with both Ensembl and HGNC. Hence, gene-checked tag has been added. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | C2orf69 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 | C2orf69 | Achchuthan Shanmugasundram commented on gene: C2orf69 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 | C2orf69 | Achchuthan Shanmugasundram Tag Q2_23_promote_green was removed from gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.37 | C2orf69 | Arina Puzriakova edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.36 | C2orf69 |
Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69. Source NHS GMS was added to C2orf69. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 | C2orf69 | Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: C2orf69. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 | C2orf69 | Arina Puzriakova Classified gene: C2orf69 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 | C2orf69 | Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Boaz Palterer (University of Florence). Associated with a relevant phenotype in OMIM (MIM# 619423) but is not yet listed in G2P. At least 13 unrelated families reported in literature (PMIDs: 33945503; 34038740). Sufficient cases plus zebrafish model to promote this gene to green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.6 | C2orf69 | Arina Puzriakova Gene: c2orf69 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.5 | C2orf69 | Arina Puzriakova Phenotypes for gene: C2orf69 were changed from hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy to Combined oxidative phosphorylation deficiency 53, OMIM:619423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.557 | C2orf69 |
Boaz Palterer gene: C2orf69 was added gene: C2orf69 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2orf69 were set to 33945503; 34038740 Phenotypes for gene: C2orf69 were set to hypomyelination; microcephaly; liver dysfunction; autoinflammation; leukoencephalopathy Penetrance for gene: C2orf69 were set to unknown Review for gene: C2orf69 was set to GREEN Added comment: Lausberg et al. dentified loss-of-function mutations in the uncharacterized C2orf69 gene in 8 individuals from 5 kindreds with biallelic C2orf69 variants, presenting with brain abnormalities involving hypomyelination and microcephaly, liver dysfunction, and recurrent autoinflammation. Wong et al. described 20 subjects from 5 kindreds with biallelic variants and a similar phenotype. Sources: Literature |